Results 41 to 50 of about 2,058,909 (246)

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

FEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican, Yara Nabawi, William Hongyu Zhang, Dunja Petrovic, Markus Wehrmann, Sara Muñoz‐García, Seda Koyuncu, David Vilchez   +7 more
wiley   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

Non-Uniform Information Access in Collaborative Information Retrieval

ACM SIGIR Forum, 2018
Although there has been a great deal of research into Collaborative Information Retrieval/Seeking (CIR/S), the majority has assumed that team members in a collaborative search team always have the same level of unrestricted access to information. However, observations from different domains such as healthcare, business, government, etc.
openaire   +2 more sources

The effects of kava on alerting and speed of access of information from long-term memory [PDF]

, 1987
Paul N. Russell, Deirdre Barker, Nirbhay N. Singh   +2 more
openalex   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Diversity, equal access and information

Journal of Innovation in Health Informatics, 2003
The overall aim of diversity is to ensure that every individual, whatever their differences, has fair and equitable access to health care and to employment based on clinical need and merit. This has advantages for staff by allowing them to give of their best and for patients by better identifying and meeting their needs. Evidence shows that individuals
openaire   +4 more sources

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

Disparate impacts on online information access during the Covid-19 pandemic. [PDF]

Nat Commun, 2022
Suh J, Horvitz E, White RW, Althoff T.
europepmc   +1 more source

Access by content of documents in an office information system [PDF]

, 1988
Claudia Jiménez-Guarín
openalex   +1 more source